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Case Reports
. 2016 Nov;64(11):856-859.
doi: 10.4103/0301-4738.195615.

Congenital keratoglobus with blue sclera in two siblings with overlapping Marshall/Stickler phenotype

Serhat Imamoglu  1 , Vedat Kaya  2 , Ebru Yalin Imamoglu  3 , Kemran Gok  4
Affiliations
Case Reports

Congenital keratoglobus with blue sclera in two siblings with overlapping Marshall/Stickler phenotype

Serhat Imamoglu et al. Indian J Ophthalmol. 2016 Nov.

Abstract

We aimed to describe congenital keratoglobus with blue sclera in two siblings with overlapping Marshall/Stickler phenotype. Two sisters (ages four and six) with bilateral high astigmatism were evaluated by slit-lamp microscopy. Corneal topography and pachymetry maps were also obtained. Slit-lamp examination revealed that both corneas were globular in shape with peripheral corneal thinning. Pachymetry maps showed diffuse corneal thinning. Two siblings had in common the features of keratoglobus, blue sclera, atypical face, hearing loss, and hypermobile joints. We tentatively diagnosed the sisters as having an overlapping Marshall-Stickler phenotype based on clinical and radiological findings. Marshall-Stickler syndrome may exist in the differential diagnosis of keratoglobus with blue sclera.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Corneal topographic images of the left eye of sibling 1 showing limbus-to-limbus corneal thinning
Figure 2
Figure 2
Frontal and profile views of sibling 1 (top) and 2 (bottom)
Figure 3
Figure 3
Absence of frontal sinus is seen in X-ray graphy of sibling 2
See this image and copyright information in PMC

References

    1. Wallang BS, Das S. Keratoglobus. Eye (Lond) 2013;27:1004–12. - PMC - PubMed
    1. Gregoratos ND, Bartsocas CS, Papas K. Blue sclerae with keratoglobus and brittle cornea. Br J Ophthalmol. 1971;55:424–6. - PMC - PubMed
    1. Hyams SW, Kar H, Neumann E. Blue sclerae and keratoglobus. Ocular signs of a systemic connective tissue disorder. Br J Ophthalmol. 1969;53:53–8. - PMC - PubMed
    1. Pyeritz RE. In: A textbook of rheumatology. Heritable and developmental disorders of connective tissue and bone. Arthritis and Allied Conditions. McCarty DJ, editor. Philadelphia, USA: Lea & Febiger; 1989. pp. 1332–59.
    1. MacDonald MR, Baker KS, Schaefer GB. Marshall-Stickler phenotype associated with von Willebrand disease. Am J Med Genet. 1997;68:121–6. - PubMed

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